Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 5:74720644 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM984151

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 14260

This variation has 14 HGVS names - click the plus to show

5:g.74720644C>T
ENST00000511181.4:c.835C>T
ENSP00000426285.1:p.Pro279Ser
ENST00000509579.1:c.-54C>T
ENST00000505859.1:c.33C>T
ENSP00000424550.1:p.Pro12Ser
ENST00000503312.4:c.386C>T
ENSP00000426384.1:p.Pro130Ser
ENST00000504459.4:n.707C>T
ENST00000513336.4:c.446C>T
ENSP00000423713.1:p.Pro150Ser
ENST00000261416.10:c.1510C>T
ENSP00000261416.7:p.Pro504Ser
ENST00000513539.1:n.229C>T

About this variant

This variant overlaps 15 transcripts and is associated with 2 phenotypes.

Variation displays